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dbVar

Database of genomic structural variation

nsv471351

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:1,431

Description:LCE1D
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: 394 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):152,796,751-152,798,181

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471351	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	152,796,751	152,798,181
nsv471351	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	152,769,227	152,770,657
nsv471351	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	149,582,300	149,583,730

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548048	copy number loss	JDW	Sequencing	Read depth	1	198
nssv548049	copy number loss	NA18507	Sequencing	Read depth		208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548048	Remapped	Perfect	NC_000001.11:g.(15 2796751_?)_(?_1527 98181)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	152,796,751	152,798,181
nssv548049	Remapped	Perfect	NC_000001.11:g.(15 2796751_?)_(?_1527 98181)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	152,796,751	152,798,181
nssv548048	Remapped	Perfect	NC_000001.10:g.(15 2769227_?)_(?_1527 70657)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	152,769,227	152,770,657
nssv548049	Remapped	Perfect	NC_000001.10:g.(15 2769227_?)_(?_1527 70657)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	152,769,227	152,770,657
nssv548048	Submitted genomic		NC_000001.8:g.(149 582300_?)_(?_14958 3730)del	NCBI35 (hg17)		NC_000001.8	Chr1	149,582,300	149,583,730
nssv548049	Submitted genomic		NC_000001.8:g.(149 582300_?)_(?_14958 3730)del	NCBI35 (hg17)		NC_000001.8	Chr1	149,582,300	149,583,730

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548048	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548049	4	NA18507	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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