A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977437



Internal ID19214998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:19205257..19706227hg38UCSC Ensembl
Outerchr13:19779397..20280367hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38500971
hg19500971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115628
Supporting Variants
SamplesKWS1
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977437
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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