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dbVar

Database of genomic structural variation

nsv471501

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:43,550

Description:LPA
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: 382 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):160,604,558-160,648,107

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471501	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	160,604,558	160,648,107
nsv471501	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	161,025,590	161,069,139
nsv471501	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000006.9	Chr6	160,996,001	161,039,550

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv547844	copy number gain	JDW	Sequencing	Read depth	35	198
nssv547846	copy number gain	NA18507	Sequencing	Read depth	22	208
nssv547847	copy number gain	YH	Sequencing	Read depth	26	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv547844	Remapped	Perfect	NC_000006.12:g.(16 0604558_?)_(?_1606 48107)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,604,558	160,648,107
nssv547846	Remapped	Perfect	NC_000006.12:g.(16 0604558_?)_(?_1606 48107)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,604,558	160,648,107
nssv547847	Remapped	Perfect	NC_000006.12:g.(16 0604558_?)_(?_1606 48107)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,604,558	160,648,107
nssv547844	Remapped	Perfect	NC_000006.11:g.(16 1025590_?)_(?_1610 69139)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,025,590	161,069,139
nssv547846	Remapped	Perfect	NC_000006.11:g.(16 1025590_?)_(?_1610 69139)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,025,590	161,069,139
nssv547847	Remapped	Perfect	NC_000006.11:g.(16 1025590_?)_(?_1610 69139)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	161,025,590	161,069,139
nssv547844	Submitted genomic		NC_000006.9:g.(160 996001_?)_(?_16103 9550)dup	NCBI35 (hg17)		NC_000006.9	Chr6	160,996,001	161,039,550
nssv547846	Submitted genomic		NC_000006.9:g.(160 996001_?)_(?_16103 9550)dup	NCBI35 (hg17)		NC_000006.9	Chr6	160,996,001	161,039,550
nssv547847	Submitted genomic		NC_000006.9:g.(160 996001_?)_(?_16103 9550)dup	NCBI35 (hg17)		NC_000006.9	Chr6	160,996,001	161,039,550

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv547844	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv547846	3	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv547847	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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