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dbVar

Database of genomic structural variation

nsv471382

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:42,563

Description:CES1
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: 691 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):55,787,588-55,830,150

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	55,787,588	55,830,150
nsv471382	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	55,821,500	55,864,062
nsv471382	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000016.8	Chr16	54,379,001	54,421,563

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548156	copy number gain	JDW	Sequencing	Read depth	4	198
nssv548167	copy number gain	NA18507	Sequencing	Read depth	4	208
nssv548178	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
nssv548156	Remapped	Perfect	NC_000016.10:g.(55 787588_?)_(?_55830 150)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	55,787,588	55,830,150
nssv548167	Remapped	Perfect	NC_000016.10:g.(55 787588_?)_(?_55830 150)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	55,787,588	55,830,150
nssv548178	Remapped	Perfect	NC_000016.10:g.(55 787588_?)_(?_55830 150)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	55,787,588	55,830,150
nssv548156	Remapped	Perfect	NC_000016.9:g.(558 21500_?)_(?_558640 62)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	55,821,500	55,864,062
nssv548167	Remapped	Perfect	NC_000016.9:g.(558 21500_?)_(?_558640 62)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	55,821,500	55,864,062
nssv548178	Remapped	Perfect	NC_000016.9:g.(558 21500_?)_(?_558640 62)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	55,821,500	55,864,062
nssv548156	Submitted genomic		NC_000016.8:g.(543 79001_?)_(?_544215 63)dup	NCBI35 (hg17)		NC_000016.8	Chr16	54,379,001	54,421,563
nssv548167	Submitted genomic		NC_000016.8:g.(543 79001_?)_(?_544215 63)dup	NCBI35 (hg17)		NC_000016.8	Chr16	54,379,001	54,421,563
nssv548178	Submitted genomic		NC_000016.8:g.(543 79001_?)_(?_544215 63)dup	NCBI35 (hg17)		NC_000016.8	Chr16	54,379,001	54,421,563

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548156	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548167	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548178	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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