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

dbVar

Database of genomic structural variation

nsv824043

Organism: Homo sapiens

Study:nstd67 (Park et al. 2010)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:5,573

Publication(s):Park et al. 2010

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: 356 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):109,644,420-109,649,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv824043	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	109,644,420	109,649,992
nsv824043	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	110,187,042	110,192,614
nsv824043	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	109,988,565	109,994,137

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1427275	copy number loss	AK8	Oligo aCGH	Probe signal intensity	623
nssv1435671	copy number gain	NA18566	Oligo aCGH	Probe signal intensity	605

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1427275	Remapped	Perfect	NC_000001.11:g.(?_ 109644420)_(109649 992_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	109,644,420	109,649,992
nssv1435671	Remapped	Perfect	NC_000001.11:g.(?_ 109644420)_(109649 992_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	109,644,420	109,649,992
nssv1427275	Remapped	Perfect	NC_000001.10:g.(?_ 110187042)_(110192 614_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	110,187,042	110,192,614
nssv1435671	Remapped	Perfect	NC_000001.10:g.(?_ 110187042)_(110192 614_?)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	110,187,042	110,192,614
nssv1427275	Submitted genomic		NC_000001.9:g.(?_1 09988565)_(1099941 37_?)del	NCBI36 (hg18)		NC_000001.9	Chr1	109,988,565	109,994,137
nssv1435671	Submitted genomic		NC_000001.9:g.(?_1 09988565)_(1099941 37_?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	109,988,565	109,994,137

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