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dbVar

Database of genomic structural variation

nsv2980

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:147,345

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: 738 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):152,803,468-152,950,812

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv2980	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	152,803,468	152,950,812
nsv2980	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	153,659,982	153,807,326
nsv2980	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	153,485,490	153,632,834

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv10245	deletion	NA18956	Sequencing	Paired-end mapping	905
nssv7564	deletion	NA12156	Sequencing	Paired-end mapping	3,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv10245	Remapped	Perfect	NC_000002.12:g.(15 2803468_?)_(?_1529 50812)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	152,803,468	152,950,812
nssv7564	Remapped	Perfect	NC_000002.12:g.(15 2936201_?)_(?_1529 45869)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	152,936,201	152,945,869
nssv10245	Remapped	Perfect	NC_000002.11:g.(15 3659982_?)_(?_1538 07326)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	153,659,982	153,807,326
nssv7564	Remapped	Perfect	NC_000002.11:g.(15 3792715_?)_(?_1538 02383)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	153,792,715	153,802,383
nssv10245	Submitted genomic		NC_000002.9:g.(153 485490_?)_(?_15363 2834)del133328	NCBI35 (hg17)		NC_000002.9	Chr2	153,485,490	153,632,834
nssv7564	Submitted genomic		NC_000002.9:g.(153 618223_?)_(?_15362 7891)del5694	NCBI35 (hg17)		NC_000002.9	Chr2	153,618,223	153,627,891

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv10245	3	NA18956	Multiple complete digestion	MCD analysis	Pass
nssv10245	5	NA18956	Oligo aCGH	Probe signal intensity	Pass
nssv10245	6	NA18956	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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