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dbVar

Database of genomic structural variation

nsv428189

Organism: Homo sapiens

Study:nstd8 (Perry et al. 2008b)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:165,702

Publication(s):Perry et al. 2008

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: 644 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):148,188,433-148,354,134

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv428189	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	148,188,433	148,354,134
nsv428189	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187564.1	Chr7\|NT_18 7564.1	1	139,261
nsv428189	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	147,885,525	148,051,226
nsv428189	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	147,516,458	147,682,159

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv451348	copy number loss	NA19113	BAC aCGH	Probe signal intensity	122
nssv451349	copy number loss	NA19189	BAC aCGH	Probe signal intensity	94

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv451348	Remapped	Pass	NT_187564.1:g.(?_1 )_(139261_?)del	GRCh38.p12	Second Pass	NT_187564.1	Chr7\|NT_18 7564.1	1	139,261
nssv451349	Remapped	Pass	NT_187564.1:g.(?_1 )_(139261_?)del	GRCh38.p12	Second Pass	NT_187564.1	Chr7\|NT_18 7564.1	1	139,261
nssv451348	Remapped	Perfect	NC_000007.14:g.(?_ 148188433)_(148354 134_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	148,188,433	148,354,134
nssv451349	Remapped	Perfect	NC_000007.14:g.(?_ 148188433)_(148354 134_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	148,188,433	148,354,134
nssv451348	Remapped	Perfect	NC_000007.13:g.(?_ 147885525)_(148051 226_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	147,885,525	148,051,226
nssv451349	Remapped	Perfect	NC_000007.13:g.(?_ 147885525)_(148051 226_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	147,885,525	148,051,226
nssv451348	Submitted genomic		NC_000007.12:g.(?_ 147516458)_(147682 159_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	147,516,458	147,682,159
nssv451349	Submitted genomic		NC_000007.12:g.(?_ 147516458)_(147682 159_?)del	NCBI36 (hg18)		NC_000007.12	Chr7	147,516,458	147,682,159

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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