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dbVar

Database of genomic structural variation

nsv471412

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:18,823

Description:PSG11
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: 1702 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):43,007,657-43,026,479

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471412	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	43,007,657	43,026,479
nsv471412	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	43,511,809	43,530,631
nsv471412	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000019.8	Chr19	48,203,649	48,222,471

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548206	copy number gain	JDW	Sequencing	Read depth	12	198
nssv548207	copy number gain	NA18507	Sequencing	Read depth	13	208
nssv548208	copy number gain	YH	Sequencing	Read depth	10	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548206	Remapped	Perfect	NC_000019.10:g.(43 007657_?)_(?_43026 479)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	43,007,657	43,026,479
nssv548207	Remapped	Perfect	NC_000019.10:g.(43 007657_?)_(?_43026 479)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	43,007,657	43,026,479
nssv548208	Remapped	Perfect	NC_000019.10:g.(43 007657_?)_(?_43026 479)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	43,007,657	43,026,479
nssv548206	Remapped	Perfect	NC_000019.9:g.(435 11809_?)_(?_435306 31)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	43,511,809	43,530,631
nssv548207	Remapped	Perfect	NC_000019.9:g.(435 11809_?)_(?_435306 31)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	43,511,809	43,530,631
nssv548208	Remapped	Perfect	NC_000019.9:g.(435 11809_?)_(?_435306 31)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	43,511,809	43,530,631
nssv548206	Submitted genomic		NC_000019.8:g.(482 03649_?)_(?_482224 71)dup	NCBI35 (hg17)		NC_000019.8	Chr19	48,203,649	48,222,471
nssv548207	Submitted genomic		NC_000019.8:g.(482 03649_?)_(?_482224 71)dup	NCBI35 (hg17)		NC_000019.8	Chr19	48,203,649	48,222,471
nssv548208	Submitted genomic		NC_000019.8:g.(482 03649_?)_(?_482224 71)dup	NCBI35 (hg17)		NC_000019.8	Chr19	48,203,649	48,222,471

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548206	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548207	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548208	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

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