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dbVar

Database of genomic structural variation

nsv828044

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:183,497

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: 639 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):52,486,716-52,662,707

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv828044	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	52,486,716	52,662,707
nsv828044	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_017363818.1	Chr17\|NW_0 17363818.1	52,540	236,036
nsv828044	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	50,564,076	50,740,067
nsv828044	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000017.9	Chr17	47,919,075	48,095,066

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv1421553	copy number loss	NA18969	Oligo aCGH	Probe signal intensity	898

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1421553	Remapped	Good	NW_017363818.1:g.( ?_52540)_(236036_? )del	GRCh38.p12	Second Pass	NW_017363818.1	Chr17\|NW_0 17363818.1	52,540	236,036
nssv1421553	Remapped	Perfect	NC_000017.11:g.(?_ 52486716)_(5266270 7_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	52,486,716	52,662,707
nssv1421553	Remapped	Perfect	NC_000017.10:g.(?_ 50564076)_(5074006 7_?)del	GRCh37.p13	First Pass	NC_000017.10	Chr17	50,564,076	50,740,067
nssv1421553	Submitted genomic		NC_000017.9:g.(?_4 7919075)_(48095066 _?)del	NCBI36 (hg18)		NC_000017.9	Chr17	47,919,075	48,095,066

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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