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dbVar

Database of genomic structural variation

nsv471393

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:26,023

Description:CFH
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: 1005 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):196,744,214-196,770,236

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471393	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	196,744,214	196,770,236
nsv471393	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	196,713,344	196,739,366
nsv471393	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	193,445,001	193,471,023

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548189	copy number gain	JDW	Sequencing	Read depth	6	198
nssv548200	copy number gain	YH	Sequencing	Read depth	4	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548189	Remapped	Perfect	NC_000001.11:g.(19 6744214_?)_(?_1967 70236)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,744,214	196,770,236
nssv548200	Remapped	Perfect	NC_000001.11:g.(19 6744214_?)_(?_1967 70236)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,744,214	196,770,236
nssv548189	Remapped	Perfect	NC_000001.10:g.(19 6713344_?)_(?_1967 39366)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	196,713,344	196,739,366
nssv548200	Remapped	Perfect	NC_000001.10:g.(19 6713344_?)_(?_1967 39366)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	196,713,344	196,739,366
nssv548189	Submitted genomic		NC_000001.8:g.(193 445001_?)_(?_19347 1023)dup	NCBI35 (hg17)		NC_000001.8	Chr1	193,445,001	193,471,023
nssv548200	Submitted genomic		NC_000001.8:g.(193 445001_?)_(?_19347 1023)dup	NCBI35 (hg17)		NC_000001.8	Chr1	193,445,001	193,471,023

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548189	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548200	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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