A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967708



Internal ID18900346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:50128340..50241040hg38UCSC Ensembl
Outerchr10:51888100..52000800hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38112701
hg19112701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131000
Supporting Variants
SamplesKWS2
Known GenesASAH2, FAM21A, FAM21B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967708
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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