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dbVar

Database of genomic structural variation

nsv471361

Organism: Homo sapiens

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

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:961

Description:OR52N1
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: 500 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):5,787,856-5,788,816

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471361	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	5,787,856	5,788,816
nsv471361	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	5,809,086	5,810,046
nsv471361	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000011.8	Chr11	5,765,662	5,766,622

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548071	copy number loss	JDW	Sequencing	Read depth	1	198
nssv548072	copy number loss	NA18507	Sequencing	Read depth	2	208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548071	Remapped	Perfect	NC_000011.10:g.(57 87856_?)_(?_578881 6)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	5,787,856	5,788,816
nssv548072	Remapped	Perfect	NC_000011.10:g.(57 87856_?)_(?_578881 6)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	5,787,856	5,788,816
nssv548071	Remapped	Perfect	NC_000011.9:g.(580 9086_?)_(?_5810046 )del	GRCh37.p13	First Pass	NC_000011.9	Chr11	5,809,086	5,810,046
nssv548072	Remapped	Perfect	NC_000011.9:g.(580 9086_?)_(?_5810046 )del	GRCh37.p13	First Pass	NC_000011.9	Chr11	5,809,086	5,810,046
nssv548071	Submitted genomic		NC_000011.8:g.(576 5662_?)_(?_5766622 )del	NCBI35 (hg17)		NC_000011.8	Chr11	5,765,662	5,766,622
nssv548072	Submitted genomic		NC_000011.8:g.(576 5662_?)_(?_5766622 )del	NCBI35 (hg17)		NC_000011.8	Chr11	5,765,662	5,766,622

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548071	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548072	4	NA18507	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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