Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv471350

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:284

Description:LCE3C
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: 653 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):152,600,732-152,601,015

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471350	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	152,600,732	152,601,015
nsv471350	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	152,573,208	152,573,491
nsv471350	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	149,386,281	149,386,564

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548044	copy number loss	JDW	Sequencing	Read depth		198
nssv548046	copy number loss	NA18507	Sequencing	Read depth	1	208
nssv548047	copy number loss	YH	Sequencing	Read depth		201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548044	Remapped	Perfect	NC_000001.11:g.(15 2600732_?)_(?_1526 01015)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	152,600,732	152,601,015
nssv548046	Remapped	Perfect	NC_000001.11:g.(15 2600732_?)_(?_1526 01015)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	152,600,732	152,601,015
nssv548047	Remapped	Perfect	NC_000001.11:g.(15 2600732_?)_(?_1526 01015)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	152,600,732	152,601,015
nssv548044	Remapped	Perfect	NC_000001.10:g.(15 2573208_?)_(?_1525 73491)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	152,573,208	152,573,491
nssv548046	Remapped	Perfect	NC_000001.10:g.(15 2573208_?)_(?_1525 73491)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	152,573,208	152,573,491
nssv548047	Remapped	Perfect	NC_000001.10:g.(15 2573208_?)_(?_1525 73491)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	152,573,208	152,573,491
nssv548044	Submitted genomic		NC_000001.8:g.(149 386281_?)_(?_14938 6564)del	NCBI35 (hg17)		NC_000001.8	Chr1	149,386,281	149,386,564
nssv548046	Submitted genomic		NC_000001.8:g.(149 386281_?)_(?_14938 6564)del	NCBI35 (hg17)		NC_000001.8	Chr1	149,386,281	149,386,564
nssv548047	Submitted genomic		NC_000001.8:g.(149 386281_?)_(?_14938 6564)del	NCBI35 (hg17)		NC_000001.8	Chr1	149,386,281	149,386,564

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548044	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548046	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548047	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

You are here: NCBI