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

dbVar

Database of genomic structural variation

nsv442033

Organism: Homo sapiens

Study:nstd22 (McCarroll et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:132,713

Publication(s):McCarroll 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: 622 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):19,372,976-19,505,688

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442033	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	19,372,976	19,505,688
nsv442033	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	19,412,599	19,545,311
nsv442033	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000007.11	Chr7	19,185,839	19,318,551

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1658283	copy number gain	NA07345	SNP array	Probe signal intensity	3	172
nssv1658284	copy number gain	NA07348	SNP array	Probe signal intensity	3	165

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1658283	Remapped	Perfect	NC_000007.14:g.(?_ 19372976)_(1950568 8_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	19,372,976	19,505,688
nssv1658284	Remapped	Perfect	NC_000007.14:g.(?_ 19372976)_(1950568 8_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	19,372,976	19,505,688
nssv1658283	Remapped	Perfect	NC_000007.13:g.(?_ 19412599)_(1954531 1_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	19,412,599	19,545,311
nssv1658284	Remapped	Perfect	NC_000007.13:g.(?_ 19412599)_(1954531 1_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	19,412,599	19,545,311
nssv1658283	Submitted genomic		NC_000007.11:g.(?_ 19185839)_(1931855 1_?)dup	NCBI35 (hg17)		NC_000007.11	Chr7	19,185,839	19,318,551
nssv1658284	Submitted genomic		NC_000007.11:g.(?_ 19185839)_(1931855 1_?)dup	NCBI35 (hg17)		NC_000007.11	Chr7	19,185,839	19,318,551

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