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

dbVar

Database of genomic structural variation

nsv441785

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:3,038

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: 152 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):132,715,955-132,718,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv441785	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	132,715,955	132,718,992
nsv441785	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	133,473,528	133,476,565
nsv441785	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	133,307,260	133,310,297

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1657110	copy number loss	NA18540	SNP array	Probe signal intensity	1	104
nssv1657111	copy number loss	NA18552	SNP array	Probe signal intensity	1	168

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1657110	Remapped	Perfect	NC_000002.12:g.(?_ 132715955)_(132718 992_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	132,715,955	132,718,992
nssv1657111	Remapped	Perfect	NC_000002.12:g.(?_ 132715955)_(132718 992_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	132,715,955	132,718,992
nssv1657110	Remapped	Perfect	NC_000002.11:g.(?_ 133473528)_(133476 565_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	133,473,528	133,476,565
nssv1657111	Remapped	Perfect	NC_000002.11:g.(?_ 133473528)_(133476 565_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	133,473,528	133,476,565
nssv1657110	Submitted genomic		NC_000002.9:g.(?_1 33307260)_(1333102 97_?)del	NCBI35 (hg17)		NC_000002.9	Chr2	133,307,260	133,310,297
nssv1657111	Submitted genomic		NC_000002.9:g.(?_1 33307260)_(1333102 97_?)del	NCBI35 (hg17)		NC_000002.9	Chr2	133,307,260	133,310,297

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