A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763591



Internal ID18961923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101697437..101698438hg38UCSC Ensembl
chr2:102313899..102314900hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072429
Supporting Variants
SamplesKWP1
Known GenesMAP4K4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763591
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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