A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2705929



Internal ID17775801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26876493..26879412hg38UCSC Ensembl
Innerchr6:26844272..26847191hg19UCSC Ensembl
Innerchr6:26952251..26955170hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382920
hg192920
hg182920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965693
Supporting Variants
SamplesHGDP00542
Known GenesGUSBP2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2705929
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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