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dbVar

Database of genomic structural variation

nsv471484

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:16,150

Description:FCGBP
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: 79 SVs from 36 studies. See in: genome view

Remapped(Score: Pass):157,796-173,945

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nsv471484	Remapped	Pass	GRCh38.p12	PATCHES	First Pass	NW_009646206.1	Chr19\|NW_0 09646206.1	-	157,796	173,945
nsv471484	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	40,373,268	-	40,404,709
nsv471484	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000019.8	Chr19	45,065,108	-	45,096,549

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547802	copy number gain	YH	Sequencing	Read depth	5	201
nssv548405	copy number gain	JDW	Sequencing	Read depth	5	198
nssv548406	copy number gain	NA18507	Sequencing	Read depth	5	208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nssv547802	Remapped	Pass	NW_009646206.1:g.( ?_157796)_(?_17394 5)dup	GRCh38.p12	First Pass	NW_009646206.1	Chr19\|NW_0 09646206.1	-	157,796	173,945
nssv548405	Remapped	Pass	NW_009646206.1:g.( ?_157796)_(?_17394 5)dup	GRCh38.p12	First Pass	NW_009646206.1	Chr19\|NW_0 09646206.1	-	157,796	173,945
nssv548406	Remapped	Pass	NW_009646206.1:g.( ?_157796)_(?_17394 5)dup	GRCh38.p12	First Pass	NW_009646206.1	Chr19\|NW_0 09646206.1	-	157,796	173,945
nssv547802	Remapped	Perfect	NC_000019.9:g.(403 73268_?)_(?_404047 09)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	40,373,268	-	40,404,709
nssv548405	Remapped	Perfect	NC_000019.9:g.(403 73268_?)_(?_404047 09)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	40,373,268	-	40,404,709
nssv548406	Remapped	Perfect	NC_000019.9:g.(403 73268_?)_(?_404047 09)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	40,373,268	-	40,404,709
nssv547802	Submitted genomic		NC_000019.8:g.(450 65108_?)_(?_450965 49)dup	NCBI35 (hg17)		NC_000019.8	Chr19	45,065,108	-	45,096,549
nssv548405	Submitted genomic		NC_000019.8:g.(450 65108_?)_(?_450965 49)dup	NCBI35 (hg17)		NC_000019.8	Chr19	45,065,108	-	45,096,549
nssv548406	Submitted genomic		NC_000019.8:g.(450 65108_?)_(?_450965 49)dup	NCBI35 (hg17)		NC_000019.8	Chr19	45,065,108	-	45,096,549

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548405	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548406	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv547802	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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