A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764707



Internal ID19309117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216690476..216693777hg38UCSC Ensembl
chr2:217555199..217558500hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072069
Supporting Variants
SamplesKWP1
Known GenesIGFBP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764707
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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