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dbVar

Database of genomic structural variation

nsv3921

Organism: Homo sapiens

Study:nstd2 (Kidd et al. 2008)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:142,234

Publication(s):Kidd et al. 2008

Links to Other Resources

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: 844 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):189,699,275-189,841,508

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv3921	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,699,275	189,841,508
nsv3921	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	189,668,405	189,810,638
nsv3921	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	186,400,062	186,542,295

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv7919	deletion	NA12156	Sequencing	Paired-end mapping	3,265
nssv3600	deletion	NA12878	Sequencing	Paired-end mapping	1,451

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv7919	Remapped	Perfect	NC_000001.11:g.(18 9699275_?)_(?_1897 44007)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,699,275	189,744,007
nssv3600	Remapped	Perfect	NC_000001.11:g.(18 9732054_?)_(?_1898 41508)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,732,054	189,841,508
nssv7919	Remapped	Perfect	NC_000001.10:g.(18 9668405_?)_(?_1897 13137)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,668,405	189,713,137
nssv3600	Remapped	Perfect	NC_000001.10:g.(18 9701184_?)_(?_1898 10638)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,701,184	189,810,638
nssv7919	Submitted genomic		NC_000001.8:g.(186 400062_?)_(?_18644 4794)del5296	NCBI35 (hg17)		NC_000001.8	Chr1	186,400,062	186,444,794
nssv3600	Submitted genomic		NC_000001.8:g.(186 432841_?)_(?_18654 2295)del80255	NCBI35 (hg17)		NC_000001.8	Chr1	186,432,841	186,542,295

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv3600	3	NA12878	Multiple complete digestion	MCD analysis	Pass
nssv3600	5	NA12878	Oligo aCGH	Probe signal intensity	Pass
nssv3600	6	NA12878	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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