A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969447



Internal ID18896176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237627257..237627957hg38UCSC Ensembl
Outerchr2:238535900..238536600hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122022
Supporting Variants
SamplesKWS2
Known GenesLRRFIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969447
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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