A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2675398



Internal ID17774907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94798464..94802207hg38UCSC Ensembl
Innerchr2:95464209..95467952hg19UCSC Ensembl
Innerchr2:94827936..94831679hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383744
hg193744
hg183744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961609
Supporting Variants
SamplesHGDP00542
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2675398
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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