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dbVar

Database of genomic structural variation

nsv471600

Organism: Homo sapiens

Study:nstd32 (Sharp et al. 2005)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI34 (hg16)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:181,132

Publication(s):Sharp et al. 2005

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: 2446 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):552,369-733,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv471600	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	552,369	733,500
nsv471600	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	513,104	694,235
nsv471600	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000023.7	ChrX	455,283	636,414

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv551004	copy number gain	GM15726	BAC aCGH	Probe signal intensity	41
nssv551005	copy number gain	JK1051A	BAC aCGH	Probe signal intensity	53
nssv551006	copy number loss	JK1061	BAC aCGH	Probe signal intensity	51

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv551004	Remapped	Perfect	NC_000023.11:g.(?_ 552369)_(733500_?) dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	552,369	733,500
nssv551005	Remapped	Perfect	NC_000023.11:g.(?_ 552369)_(733500_?) dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	552,369	733,500
nssv551006	Remapped	Perfect	NC_000023.11:g.(?_ 552369)_(733500_?) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	552,369	733,500
nssv551004	Remapped	Perfect	NC_000023.10:g.(?_ 513104)_(694235_?) dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	513,104	694,235
nssv551005	Remapped	Perfect	NC_000023.10:g.(?_ 513104)_(694235_?) dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	513,104	694,235
nssv551006	Remapped	Perfect	NC_000023.10:g.(?_ 513104)_(694235_?) del	GRCh37.p13	First Pass	NC_000023.10	ChrX	513,104	694,235
nssv551004	Submitted genomic		NC_000023.7:g.(?_4 55283)_(636414_?)d up	NCBI34 (hg16)		NC_000023.7	ChrX	455,283	636,414
nssv551005	Submitted genomic		NC_000023.7:g.(?_4 55283)_(636414_?)d up	NCBI34 (hg16)		NC_000023.7	ChrX	455,283	636,414
nssv551006	Submitted genomic		NC_000023.7:g.(?_4 55283)_(636414_?)d el	NCBI34 (hg16)		NC_000023.7	ChrX	455,283	636,414

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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