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dbVar

Database of genomic structural variation

nsv2313

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: No
Region Size:76,216

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: 500 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):54,391,689-54,467,904

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv2313	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	54,391,689	54,467,904
nsv2313	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	51,918,059	51,994,274
nsv2313	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000018.8	Chr18	50,172,057	50,248,272

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv2197	deletion	NA18555	Sequencing	Paired-end mapping	1,472
nssv5705	deletion	NA19129	Sequencing	Paired-end mapping	1,384
nssv1416	deletion	NA19240	Sequencing	Paired-end mapping	1,381
nssv4327	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
nssv2197	Remapped	Perfect	NC_000018.10:g.(54 391689_?)_(?_54436 933)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	54,391,689	54,436,933
nssv5705	Remapped	Perfect	NC_000018.10:g.(54 410189_?)_(?_54454 939)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	54,410,189	54,454,939
nssv1416	Remapped	Perfect	NC_000018.10:g.(54 416688_?)_(?_54462 013)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	54,416,688	54,462,013
nssv4327	Remapped	Perfect	NC_000018.10:g.(54 422477_?)_(?_54467 904)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	54,422,477	54,467,904
nssv2197	Remapped	Perfect	NC_000018.9:g.(519 18059_?)_(?_519633 03)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	51,918,059	51,963,303
nssv5705	Remapped	Perfect	NC_000018.9:g.(519 36559_?)_(?_519813 09)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	51,936,559	51,981,309
nssv1416	Remapped	Perfect	NC_000018.9:g.(519 43058_?)_(?_519883 83)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	51,943,058	51,988,383
nssv4327	Remapped	Perfect	NC_000018.9:g.(519 48847_?)_(?_519942 74)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	51,948,847	51,994,274
nssv2197	Submitted genomic		NC_000018.8:g.(501 72057_?)_(?_502173 01)del5264	NCBI35 (hg17)		NC_000018.8	Chr18	50,172,057	50,217,301
nssv5705	Submitted genomic		NC_000018.8:g.(501 90557_?)_(?_502353 07)del5470	NCBI35 (hg17)		NC_000018.8	Chr18	50,190,557	50,235,307
nssv1416	Submitted genomic		NC_000018.8:g.(501 97056_?)_(?_502423 81)del7157	NCBI35 (hg17)		NC_000018.8	Chr18	50,197,056	50,242,381
nssv4327	Submitted genomic		NC_000018.8:g.(502 02845_?)_(?_502482 72)del5678	NCBI35 (hg17)		NC_000018.8	Chr18	50,202,845	50,248,272

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv1416	3	NA19240	Multiple complete digestion	MCD analysis	Pass
nssv4327	5	NA12878	Oligo aCGH	Probe signal intensity	Pass
nssv1416	2	NA19240	Sequencing	Sequence alignment	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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