A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv901581



Internal ID6263508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30985803..31564477hg19UCSC Ensembl
Outerchr14:30978745..31585289hg19UCSC Ensembl
Innerchr14:30055554..30634228hg18UCSC Ensembl
Outerchr14:30048496..30655040hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1595112
SamplesIS40111
Known GenesAP4S1, COCH, G2E3, HECTD1, LOC100506071, MIR624, SCFD1, STRN3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv901581
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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