A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970885



Internal ID18606107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75211222..75218246hg38UCSC Ensembl
Innerchr7:74626941..74633963hg19UCSC Ensembl
Innerchr7:74264877..74271899hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387025
hg197023
hg187023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463758, nssv2463766, nssv2463762, nssv2463764, nssv2463757, nssv2463760, nssv2463761, nssv2463763, nssv2463759, nssv2463765
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970885
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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