A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2706628



Internal ID17494491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57939920..57943068hg38UCSC Ensembl
Innerchr6:58266198..58269346hg19UCSC Ensembl
Innerchr6:58374157..58377305hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383149
hg193149
hg183149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969410
Supporting Variants
SamplesHGDP00998
Known GenesGUSBP4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2706628
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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