A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967281



Internal ID18885876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237543057..237544157hg38UCSC Ensembl
Outerchr2:238451700..238452800hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112781
Supporting Variants
SamplesKWS2
Known GenesMLPH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967281
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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