A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962482



Internal ID18873792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226978502..226978746hg38UCSC Ensembl
Outerchr1:227166203..227166447hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111857
Supporting Variants
SamplesKWS1
Known GenesADCK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962482
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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