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dbVar

Database of genomic structural variation

nsv437751

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:12,482

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: 98 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):42,192,839-42,205,320

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
nsv437751	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	42,192,839	42,196,422	42,197,093	42,205,320
nsv437751	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	42,586,641	42,590,224	42,590,895	42,599,122
nsv437751	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000012.8	Chr12	40,872,908	40,876,491	40,877,162	40,885,389

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv467632	copy number loss	NA19094	SNP array	SNP genotyping analysis	Heterozygous	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv467632	Remapped	Perfect	NC_000012.12:g.(42 192839_42196422)_( 42197093_42205320) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	42,192,839	42,196,422	42,197,093	42,205,320
nssv467632	Remapped	Perfect	NC_000012.11:g.(42 586641_42590224)_( 42590895_42599122) del	GRCh37.p13	First Pass	NC_000012.11	Chr12	42,586,641	42,590,224	42,590,895	42,599,122
nssv467632	Submitted genomic		NC_000012.8:g.(408 72908_40876491)_(4 0877162_40885389)d el	NCBI34 (hg16)		NC_000012.8	Chr12	40,872,908	40,876,491	40,877,162	40,885,389

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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