A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114140



Internal ID18903826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143169703..143169763hg38UCSC Ensembl
Outerchr2:143927272..143927332hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955580, nssv3972817
SamplesKWS1, KWS2
Known GenesARHGAP15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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