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dbVar

Database of genomic structural variation

nsv471510

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:31,784

Description:NEB
Publication(s):Alkan et al. 2009

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: 243 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):151,577,840-151,609,623

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471510	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	151,577,840	151,609,623
nsv471510	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	152,434,354	152,466,137
nsv471510	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	152,259,862	152,291,645

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547868	copy number gain	JDW	Sequencing	Read depth	4	198
nssv547869	copy number gain	NA18507	Sequencing	Read depth	5	208
nssv547870	copy number gain	YH	Sequencing	Read depth	5	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv547868	Remapped	Perfect	NC_000002.12:g.(15 1577840_?)_(?_1516 09623)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	151,577,840	151,609,623
nssv547869	Remapped	Perfect	NC_000002.12:g.(15 1577840_?)_(?_1516 09623)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	151,577,840	151,609,623
nssv547870	Remapped	Perfect	NC_000002.12:g.(15 1577840_?)_(?_1516 09623)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	151,577,840	151,609,623
nssv547868	Remapped	Perfect	NC_000002.11:g.(15 2434354_?)_(?_1524 66137)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	152,434,354	152,466,137
nssv547869	Remapped	Perfect	NC_000002.11:g.(15 2434354_?)_(?_1524 66137)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	152,434,354	152,466,137
nssv547870	Remapped	Perfect	NC_000002.11:g.(15 2434354_?)_(?_1524 66137)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	152,434,354	152,466,137
nssv547868	Submitted genomic		NC_000002.9:g.(152 259862_?)_(?_15229 1645)dup	NCBI35 (hg17)		NC_000002.9	Chr2	152,259,862	152,291,645
nssv547869	Submitted genomic		NC_000002.9:g.(152 259862_?)_(?_15229 1645)dup	NCBI35 (hg17)		NC_000002.9	Chr2	152,259,862	152,291,645
nssv547870	Submitted genomic		NC_000002.9:g.(152 259862_?)_(?_15229 1645)dup	NCBI35 (hg17)		NC_000002.9	Chr2	152,259,862	152,291,645

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv547868	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv547869	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv547870	3	YH	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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