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dbVar

Database of genomic structural variation

nsv469890

Organism: Homo sapiens

Study:nstd29 (Locke et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI34 (hg16)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:206,023

Publication(s):Locke et al. 2006

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: 651 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):20,381,603-20,587,625

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv469890	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	20,381,603	20,587,625
nsv469890	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	20,239,114	20,445,136
nsv469890	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000008.8	Chr8	20,249,387	20,455,409

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv1672945	copy number loss	BAC aCGH	Probe signal intensity
nssv1673114	copy number loss	BAC aCGH	Probe signal intensity
nssv1673567	copy number loss	BAC aCGH	Probe signal intensity
nssv1673986	copy number loss	BAC aCGH	Probe signal intensity
nssv1674416	copy number loss	BAC aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1672945	Remapped	Perfect	NC_000008.11:g.(?_ 20381603)_(2058762 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	20,381,603	20,587,625
nssv1673114	Remapped	Perfect	NC_000008.11:g.(?_ 20381603)_(2058762 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	20,381,603	20,587,625
nssv1673567	Remapped	Perfect	NC_000008.11:g.(?_ 20381603)_(2058762 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	20,381,603	20,587,625
nssv1673986	Remapped	Perfect	NC_000008.11:g.(?_ 20381603)_(2058762 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	20,381,603	20,587,625
nssv1674416	Remapped	Perfect	NC_000008.11:g.(?_ 20381603)_(2058762 5_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	20,381,603	20,587,625
nssv1672945	Remapped	Perfect	NC_000008.10:g.(?_ 20239114)_(2044513 6_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	20,239,114	20,445,136
nssv1673114	Remapped	Perfect	NC_000008.10:g.(?_ 20239114)_(2044513 6_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	20,239,114	20,445,136
nssv1673567	Remapped	Perfect	NC_000008.10:g.(?_ 20239114)_(2044513 6_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	20,239,114	20,445,136
nssv1673986	Remapped	Perfect	NC_000008.10:g.(?_ 20239114)_(2044513 6_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	20,239,114	20,445,136
nssv1674416	Remapped	Perfect	NC_000008.10:g.(?_ 20239114)_(2044513 6_?)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	20,239,114	20,445,136
nssv1672945	Submitted genomic		NC_000008.8:g.(?_2 0249387)_(20455409 _?)del	NCBI34 (hg16)		NC_000008.8	Chr8	20,249,387	20,455,409
nssv1673114	Submitted genomic		NC_000008.8:g.(?_2 0249387)_(20455409 _?)del	NCBI34 (hg16)		NC_000008.8	Chr8	20,249,387	20,455,409
nssv1673567	Submitted genomic		NC_000008.8:g.(?_2 0249387)_(20455409 _?)del	NCBI34 (hg16)		NC_000008.8	Chr8	20,249,387	20,455,409
nssv1673986	Submitted genomic		NC_000008.8:g.(?_2 0249387)_(20455409 _?)del	NCBI34 (hg16)		NC_000008.8	Chr8	20,249,387	20,455,409
nssv1674416	Submitted genomic		NC_000008.8:g.(?_2 0249387)_(20455409 _?)del	NCBI34 (hg16)		NC_000008.8	Chr8	20,249,387	20,455,409

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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