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dbVar

Database of genomic structural variation

nsv828058

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:2,077

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: 330 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):57,610,399-57,612,475

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv828058	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nsv828058	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nsv828058	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	53,042,759	53,044,835

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1422954	copy number loss	NA18547	Oligo aCGH	Probe signal intensity	656
nssv1423010	copy number loss	NA18552	Oligo aCGH	Probe signal intensity	610
nssv1433310	copy number gain	NA18972	Oligo aCGH	Probe signal intensity	750
nssv1434051	copy number loss	NA18526	Oligo aCGH	Probe signal intensity	677
nssv1434766	copy number loss	NA18570	Oligo aCGH	Probe signal intensity	629
nssv1437098	copy number loss	NA18542	Oligo aCGH	Probe signal intensity	805

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1422954	Remapped	Perfect	NC_000017.11:g.(?_ 57610399)_(5761247 5_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nssv1423010	Remapped	Perfect	NC_000017.11:g.(?_ 57610399)_(5761247 5_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nssv1433310	Remapped	Perfect	NC_000017.11:g.(?_ 57610399)_(5761247 5_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nssv1434051	Remapped	Perfect	NC_000017.11:g.(?_ 57610399)_(5761247 5_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nssv1434766	Remapped	Perfect	NC_000017.11:g.(?_ 57610399)_(5761247 5_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nssv1437098	Remapped	Perfect	NC_000017.11:g.(?_ 57610399)_(5761247 5_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,610,399	57,612,475
nssv1422954	Remapped	Perfect	NC_000017.10:g.(?_ 55687760)_(5568983 6_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nssv1423010	Remapped	Perfect	NC_000017.10:g.(?_ 55687760)_(5568983 6_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nssv1433310	Remapped	Perfect	NC_000017.10:g.(?_ 55687760)_(5568983 6_?)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nssv1434051	Remapped	Perfect	NC_000017.10:g.(?_ 55687760)_(5568983 6_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nssv1434766	Remapped	Perfect	NC_000017.10:g.(?_ 55687760)_(5568983 6_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nssv1437098	Remapped	Perfect	NC_000017.10:g.(?_ 55687760)_(5568983 6_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	55,687,760	55,689,836
nssv1422954	Submitted genomic		NC_000017.9:g.(?_5 3042759)_(53044835 _?)del	NCBI36 (hg18)		NC_000017.9	Chr17	53,042,759	53,044,835
nssv1423010	Submitted genomic		NC_000017.9:g.(?_5 3042759)_(53044835 _?)del	NCBI36 (hg18)		NC_000017.9	Chr17	53,042,759	53,044,835
nssv1433310	Submitted genomic		NC_000017.9:g.(?_5 3042759)_(53044835 _?)dup	NCBI36 (hg18)		NC_000017.9	Chr17	53,042,759	53,044,835
nssv1434051	Submitted genomic		NC_000017.9:g.(?_5 3042759)_(53044835 _?)del	NCBI36 (hg18)		NC_000017.9	Chr17	53,042,759	53,044,835
nssv1434766	Submitted genomic		NC_000017.9:g.(?_5 3042759)_(53044835 _?)del	NCBI36 (hg18)		NC_000017.9	Chr17	53,042,759	53,044,835
nssv1437098	Submitted genomic		NC_000017.9:g.(?_5 3042759)_(53044835 _?)del	NCBI36 (hg18)		NC_000017.9	Chr17	53,042,759	53,044,835

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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