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

dbVar

Database of genomic structural variation

nsv469592

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:192,630

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: 554 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):63,092,730-63,285,359

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv469592	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nsv469592	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nsv469592	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000012.8	Chr12	61,772,777	61,965,406

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv1672147	copy number loss	BAC aCGH	Probe signal intensity
nssv1675163	copy number loss	BAC aCGH	Probe signal intensity
nssv1675231	copy number loss	BAC aCGH	Probe signal intensity
nssv1675951	copy number loss	BAC aCGH	Probe signal intensity
nssv1676429	copy number loss	BAC aCGH	Probe signal intensity
nssv1676674	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
nssv1672147	Remapped	Perfect	NC_000012.12:g.(?_ 63092730)_(6328535 9_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nssv1675163	Remapped	Perfect	NC_000012.12:g.(?_ 63092730)_(6328535 9_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nssv1675231	Remapped	Perfect	NC_000012.12:g.(?_ 63092730)_(6328535 9_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nssv1675951	Remapped	Perfect	NC_000012.12:g.(?_ 63092730)_(6328535 9_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nssv1676429	Remapped	Perfect	NC_000012.12:g.(?_ 63092730)_(6328535 9_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nssv1676674	Remapped	Perfect	NC_000012.12:g.(?_ 63092730)_(6328535 9_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	63,092,730	63,285,359
nssv1672147	Remapped	Perfect	NC_000012.11:g.(?_ 63486510)_(6367913 9_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nssv1675163	Remapped	Perfect	NC_000012.11:g.(?_ 63486510)_(6367913 9_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nssv1675231	Remapped	Perfect	NC_000012.11:g.(?_ 63486510)_(6367913 9_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nssv1675951	Remapped	Perfect	NC_000012.11:g.(?_ 63486510)_(6367913 9_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nssv1676429	Remapped	Perfect	NC_000012.11:g.(?_ 63486510)_(6367913 9_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nssv1676674	Remapped	Perfect	NC_000012.11:g.(?_ 63486510)_(6367913 9_?)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	63,486,510	63,679,139
nssv1672147	Submitted genomic		NC_000012.8:g.(?_6 1772777)_(61965406 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	61,772,777	61,965,406
nssv1675163	Submitted genomic		NC_000012.8:g.(?_6 1772777)_(61965406 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	61,772,777	61,965,406
nssv1675231	Submitted genomic		NC_000012.8:g.(?_6 1772777)_(61965406 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	61,772,777	61,965,406
nssv1675951	Submitted genomic		NC_000012.8:g.(?_6 1772777)_(61965406 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	61,772,777	61,965,406
nssv1676429	Submitted genomic		NC_000012.8:g.(?_6 1772777)_(61965406 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	61,772,777	61,965,406
nssv1676674	Submitted genomic		NC_000012.8:g.(?_6 1772777)_(61965406 _?)del	NCBI34 (hg16)		NC_000012.8	Chr12	61,772,777	61,965,406

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

You are here: NCBI