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dbVar

Database of genomic structural variation

nsv471418

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:32,959

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: 212 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):73,784,189-73,817,147

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471418	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	73,784,189	73,817,147
nsv471418	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	74,011,316	74,044,274
nsv471418	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	73,922,971	73,955,929

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548223	copy number gain	JDW	Sequencing	Read depth	10	198
nssv548224	copy number gain	NA18507	Sequencing	Read depth	7	208
nssv548225	copy number gain	YH	Sequencing	Read depth	14	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548223	Remapped	Perfect	NC_000002.12:g.(73 784189_?)_(?_73817 147)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,784,189	73,817,147
nssv548224	Remapped	Perfect	NC_000002.12:g.(73 784189_?)_(?_73817 147)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,784,189	73,817,147
nssv548225	Remapped	Perfect	NC_000002.12:g.(73 784189_?)_(?_73817 147)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	73,784,189	73,817,147
nssv548223	Remapped	Perfect	NC_000002.11:g.(74 011316_?)_(?_74044 274)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	74,011,316	74,044,274
nssv548224	Remapped	Perfect	NC_000002.11:g.(74 011316_?)_(?_74044 274)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	74,011,316	74,044,274
nssv548225	Remapped	Perfect	NC_000002.11:g.(74 011316_?)_(?_74044 274)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	74,011,316	74,044,274
nssv548223	Submitted genomic		NC_000002.9:g.(739 22971_?)_(?_739559 29)dup	NCBI35 (hg17)		NC_000002.9	Chr2	73,922,971	73,955,929
nssv548224	Submitted genomic		NC_000002.9:g.(739 22971_?)_(?_739559 29)dup	NCBI35 (hg17)		NC_000002.9	Chr2	73,922,971	73,955,929
nssv548225	Submitted genomic		NC_000002.9:g.(739 22971_?)_(?_739559 29)dup	NCBI35 (hg17)		NC_000002.9	Chr2	73,922,971	73,955,929

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548223	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548224	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548225	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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