A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961801



Internal ID18250361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85543439..85545146hg38UCSC Ensembl
Innerchr2:85770562..85772269hg19UCSC Ensembl
Innerchr2:85624073..85625780hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381708
hg191708
hg181708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2179894, nssv2179892, nssv2179887, nssv2179885, nssv2179888, nssv2179893, nssv2179891, nssv2179889, nssv2179890, nssv2179886
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGGCX, MAT2A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961801
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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