Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv471373

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:31,415

Description:POTEB
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: 3978 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):21,408,964-21,440,378

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471373	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	21,408,964	21,440,378
nsv471373	Remapped	Good	GRCh37.p13	Primary Assembly	Second Pass	NC_000015.9	Chr15	21,040,701	21,071,977
nsv471373	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000015.8	Chr15	19,305,253	19,336,667

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548098	copy number gain	JDW	Sequencing	Read depth	17	198
nssv548099	copy number gain	NA18507	Sequencing	Read depth	21	208
nssv548101	copy number gain	YH	Sequencing	Read depth	22	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548098	Remapped	Perfect	NC_000015.10:g.(21 408964_?)_(?_21440 378)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	21,408,964	21,440,378
nssv548099	Remapped	Perfect	NC_000015.10:g.(21 408964_?)_(?_21440 378)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	21,408,964	21,440,378
nssv548101	Remapped	Perfect	NC_000015.10:g.(21 408964_?)_(?_21440 378)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	21,408,964	21,440,378
nssv548098	Remapped	Good	NC_000015.9:g.(210 40701_?)_(?_210719 77)dup	GRCh37.p13	Second Pass	NC_000015.9	Chr15	21,040,701	21,071,977
nssv548099	Remapped	Good	NC_000015.9:g.(210 40701_?)_(?_210719 77)dup	GRCh37.p13	Second Pass	NC_000015.9	Chr15	21,040,701	21,071,977
nssv548101	Remapped	Good	NC_000015.9:g.(210 40701_?)_(?_210719 77)dup	GRCh37.p13	Second Pass	NC_000015.9	Chr15	21,040,701	21,071,977
nssv548098	Submitted genomic		NC_000015.8:g.(193 05253_?)_(?_193366 67)dup	NCBI35 (hg17)		NC_000015.8	Chr15	19,305,253	19,336,667
nssv548099	Submitted genomic		NC_000015.8:g.(193 05253_?)_(?_193366 67)dup	NCBI35 (hg17)		NC_000015.8	Chr15	19,305,253	19,336,667
nssv548101	Submitted genomic		NC_000015.8:g.(193 05253_?)_(?_193366 67)dup	NCBI35 (hg17)		NC_000015.8	Chr15	19,305,253	19,336,667

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548098	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548099	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548101	4	YH	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI