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dbVar

Database of genomic structural variation

nsv917662

Organism: Homo sapiens

Study:nstd75 (ClinGen Prenatal)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: Yes
Region Size:127,183

Publication(s):Wapner et al. 2012

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1810 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):39,401,339-39,528,521

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917662	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	39,401,339	39,528,521
nsv917662	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	39,258,858	39,386,040
nsv917662	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000008.9	Chr8	39,378,015	39,505,197

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605725	copy number loss	ISCA_ID_pn_1438	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	1
nssv1606059	copy number loss	ISCA_ID_pn_1735	Oligo aCGH	Probe signal intensity	Increased nuchal translucency	Benign	Submitter	1
nssv1606388	copy number loss	ISCA_ID_pn_2027	Oligo aCGH	Probe signal intensity	Complete atrioventricular canal defect	Benign	Submitter	1
nssv1606670	copy number loss	ISCA_ID_pn_2274	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	1
nssv1606676	copy number loss	ISCA_ID_pn_2278	Oligo aCGH	Probe signal intensity	Ambiguous genitalia	Benign	Submitter	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1605725	Remapped	Perfect	NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,401,339	39,528,521
nssv1606059	Remapped	Perfect	NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,401,339	39,528,521
nssv1606388	Remapped	Perfect	NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,401,339	39,528,521
nssv1606670	Remapped	Perfect	NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,401,339	39,528,521
nssv1606676	Remapped	Perfect	NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	39,401,339	39,528,521
nssv1605725	Remapped	Perfect	NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	39,258,858	39,386,040
nssv1606059	Remapped	Perfect	NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	39,258,858	39,386,040
nssv1606388	Remapped	Perfect	NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	39,258,858	39,386,040
nssv1606670	Remapped	Perfect	NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	39,258,858	39,386,040
nssv1606676	Remapped	Perfect	NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	39,258,858	39,386,040
nssv1605725	Submitted genomic		NC_000008.9:g.(?_3 9378015)_(39505197 _?)del	NCBI36 (hg18)		NC_000008.9	Chr8	39,378,015	39,505,197
nssv1606059	Submitted genomic		NC_000008.9:g.(?_3 9378015)_(39505197 _?)del	NCBI36 (hg18)		NC_000008.9	Chr8	39,378,015	39,505,197
nssv1606388	Submitted genomic		NC_000008.9:g.(?_3 9378015)_(39505197 _?)del	NCBI36 (hg18)		NC_000008.9	Chr8	39,378,015	39,505,197
nssv1606670	Submitted genomic		NC_000008.9:g.(?_3 9378015)_(39505197 _?)del	NCBI36 (hg18)		NC_000008.9	Chr8	39,378,015	39,505,197
nssv1606676	Submitted genomic		NC_000008.9:g.(?_3 9378015)_(39505197 _?)del	NCBI36 (hg18)		NC_000008.9	Chr8	39,378,015	39,505,197

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1605725	ISCA_ID_pn_1438	NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Female	17 weeks gestation	1
nssv1606059	ISCA_ID_pn_1735	NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del	copy number loss	Increased nuchal translucency	Benign	Submitter	Male	12 weeks gestation	1
nssv1606388	ISCA_ID_pn_2027	NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del	copy number loss	Complete atrioventricular canal defect	Benign	Submitter	Male	19 weeks gestation	1
nssv1606670	ISCA_ID_pn_2274	NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Female	10 weeks gestation	1
nssv1606676	ISCA_ID_pn_2278	NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del	copy number loss	Ambiguous genitalia	Benign	Submitter	Male	25 weeks gestation	1

No genotype data were submitted for this variant

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