A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137766



Internal ID18910813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62686148..62686487hg38UCSC Ensembl
Outerchr1:63151819..63152158hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv94n106
Supporting Variantsnssv3962306, nssv3968020
SamplesKWS2, KWS1
Known GenesDOCK7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137766
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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