A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2675337



Internal ID17872075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94797491..94798464hg38UCSC Ensembl
Innerchr2:95463236..95464209hg19UCSC Ensembl
Innerchr2:94826963..94827936hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38974
hg19974
hg18974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961608
Supporting Variants
SamplesHGDP01284
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2675337
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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