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dbVar

Database of genomic structural variation

nsv19

Organism: Homo sapiens

Study:nstd1 (Tuzun et al. 2005)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:30,807

Publication(s):Tuzun et al. 2005

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: 815 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):1,391,849-1,422,655

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv19	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	1,391,849	1,422,655
nsv19	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187654.1	Chr8\|NT_18 7654.1	2,133	32,939
nsv19	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187565.1	Chr8\|NT_18 7565.1	110,692	128,187
nsv19	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	1,340,015	1,370,821
nsv19	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000008.9	Chr8	1,327,422	1,358,228

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv19	deletion	SAMN00000376	Sequencing	Paired-end mapping	297

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv19	Remapped	Perfect	NT_187654.1:g.(213 3_?)_(?_32939)del	GRCh38.p12	Second Pass	NT_187654.1	Chr8\|NT_18 7654.1	2,133	32,939
nssv19	Remapped	Pass	NT_187565.1:g.(110 692_?)_(?_128187)d el	GRCh38.p12	Second Pass	NT_187565.1	Chr8\|NT_18 7565.1	110,692	128,187
nssv19	Remapped	Perfect	NC_000008.11:g.(13 91849_?)_(?_142265 5)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	1,391,849	1,422,655
nssv19	Remapped	Perfect	NC_000008.10:g.(13 40015_?)_(?_137082 1)del	GRCh37.p13	First Pass	NC_000008.10	Chr8	1,340,015	1,370,821
nssv19	Submitted genomic		NC_000008.9:g.(132 7422_?)_(?_1358228 )del13004	NCBI35 (hg17)		NC_000008.9	Chr8	1,327,422	1,358,228

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv19	2	SAMN00000376	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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