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dbVar

Database of genomic structural variation

nsv471530

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:27,470

Description:C2orf78
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: 210 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):73,782,586-73,810,055

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471530	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	73,782,586	73,810,055
nsv471530	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	74,009,713	74,037,182
nsv471530	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	73,921,368	73,948,837

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547923	copy number gain	JDW	Sequencing	Read depth	10	198
nssv547934	copy number gain	NA18507	Sequencing	Read depth	8	208
nssv547945	copy number gain	YH	Sequencing	Read depth	16	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv547923	Remapped	Perfect	NC_000002.12:g.(73 782586_?)_(?_73810 055)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,782,586	73,810,055
nssv547934	Remapped	Perfect	NC_000002.12:g.(73 782586_?)_(?_73810 055)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,782,586	73,810,055
nssv547945	Remapped	Perfect	NC_000002.12:g.(73 782586_?)_(?_73810 055)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,782,586	73,810,055
nssv547923	Remapped	Perfect	NC_000002.11:g.(74 009713_?)_(?_74037 182)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	74,009,713	74,037,182
nssv547934	Remapped	Perfect	NC_000002.11:g.(74 009713_?)_(?_74037 182)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	74,009,713	74,037,182
nssv547945	Remapped	Perfect	NC_000002.11:g.(74 009713_?)_(?_74037 182)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	74,009,713	74,037,182
nssv547923	Submitted genomic		NC_000002.9:g.(739 21368_?)_(?_739488 37)dup	NCBI35 (hg17)		NC_000002.9	Chr2	73,921,368	73,948,837
nssv547934	Submitted genomic		NC_000002.9:g.(739 21368_?)_(?_739488 37)dup	NCBI35 (hg17)		NC_000002.9	Chr2	73,921,368	73,948,837
nssv547945	Submitted genomic		NC_000002.9:g.(739 21368_?)_(?_739488 37)dup	NCBI35 (hg17)		NC_000002.9	Chr2	73,921,368	73,948,837

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv547923	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv547934	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv547945	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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