Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv917557

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:293,448

Publication(s):Wapner et al. 2012

Links to Other Resources

Overlapping Genes

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: 1911 SVs from 90 studies. See in: genome view

Remapped(Score: Good):22,813,994-23,107,441

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917557	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	22,813,994	23,107,441
nsv917557	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187603.1	Chr15\|NT_1 87603.1	1	207,920
nsv917557	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	22,765,627	23,059,074
nsv917557	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	20,316,991	20,610,515

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1606327	copy number loss	ISCA_ID_pn_1973	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely pathogenic	Submitter	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1606327	Remapped	Pass	NT_187603.1:g.(?_1 )_(207920_?)del	GRCh38.p12	Second Pass	NT_187603.1	Chr15\|NT_1 87603.1	1	207,920
nssv1606327	Remapped	Good	NC_000015.10:g.(?_ 22813994)_(2310744 1_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	22,813,994	23,107,441
nssv1606327	Remapped	Good	NC_000015.9:g.(?_2 2765627)_(23059074 _?)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	22,765,627	23,059,074
nssv1606327	Submitted genomic		NC_000015.8:g.(?_2 0316991)_(20610515 _?)del	NCBI36 (hg18)		NC_000015.8	Chr15	20,316,991	20,610,515

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
nssv1606327	ISCA_ID_pn_1973	NCBI36: NC_000015.8:g.(?_20316991)_(20610515_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Likely pathogenic	Submitter	Female	19 weeks gestation	1

No genotype data were submitted for this variant

You are here: NCBI