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dbVar

Database of genomic structural variation

nsv471539

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:25,120

Description:PRAMEF1
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: 985 SVs from 81 studies. See in: genome view

Remapped(Score: Good):12,780,116-12,805,235

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471539	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	12,780,116	12,805,235
nsv471539	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	12,840,259	12,865,371
nsv471539	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	12,774,525	12,799,637

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547949	copy number gain	JDW	Sequencing	Read depth	8	198
nssv547950	copy number gain	NA18507	Sequencing	Read depth	8	208
nssv547951	copy number gain	YH	Sequencing	Read depth	8	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv547949	Remapped	Good	NC_000001.11:g.(12 780116_?)_(?_12805 235)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,780,116	12,805,235
nssv547950	Remapped	Good	NC_000001.11:g.(12 780116_?)_(?_12805 235)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,780,116	12,805,235
nssv547951	Remapped	Good	NC_000001.11:g.(12 780116_?)_(?_12805 235)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	12,780,116	12,805,235
nssv547949	Remapped	Perfect	NC_000001.10:g.(12 840259_?)_(?_12865 371)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	12,840,259	12,865,371
nssv547950	Remapped	Perfect	NC_000001.10:g.(12 840259_?)_(?_12865 371)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	12,840,259	12,865,371
nssv547951	Remapped	Perfect	NC_000001.10:g.(12 840259_?)_(?_12865 371)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	12,840,259	12,865,371
nssv547949	Submitted genomic		NC_000001.8:g.(127 74525_?)_(?_127996 37)dup	NCBI35 (hg17)		NC_000001.8	Chr1	12,774,525	12,799,637
nssv547950	Submitted genomic		NC_000001.8:g.(127 74525_?)_(?_127996 37)dup	NCBI35 (hg17)		NC_000001.8	Chr1	12,774,525	12,799,637
nssv547951	Submitted genomic		NC_000001.8:g.(127 74525_?)_(?_127996 37)dup	NCBI35 (hg17)		NC_000001.8	Chr1	12,774,525	12,799,637

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv547949	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv547950	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv547951	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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