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dbVar

Database of genomic structural variation

nsv437313

Organism: Homo sapiens

Study:nstd17 (Conrad et al. 2005)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI34 (hg16)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:71,565

Publication(s):Conrad 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: 593 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):189,738,837-189,810,401

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv437313	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,738,837	189,743,041	189,801,131	189,810,401
nsv437313	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	189,707,967	189,712,171	189,770,261	189,779,531
nsv437313	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000001.7	Chr1	186,996,226	187,000,430	187,058,520	187,067,790

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv467194	copy number loss	NA12878	SNP array	SNP genotyping analysis	Heterozygous	12

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv467194	Remapped	Perfect	NC_000001.11:g.(18 9738837_189743041) _(189801131_189810 401)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,738,837	189,743,041	189,801,131	189,810,401
nssv467194	Remapped	Perfect	NC_000001.10:g.(18 9707967_189712171) _(189770261_189779 531)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,707,967	189,712,171	189,770,261	189,779,531
nssv467194	Submitted genomic		NC_000001.7:g.(186 996226_187000430)_ (187058520_1870677 90)del	NCBI34 (hg16)		NC_000001.7	Chr1	186,996,226	187,000,430	187,058,520	187,067,790

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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