A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978972



Internal ID18614175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684629..240703655hg38UCSC Ensembl
Innerchr2:241624046..241643072hg19UCSC Ensembl
Innerchr2:241272719..241291745hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3819027
hg1919027
hg1819027
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2226269, nssv2226274, nssv2226275, nssv2226276, nssv2226270, nssv2226271, nssv2226272, nssv2226277, nssv2226268, nssv2226273
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAQP12A
MethodSequencing
Analysislineage specific fixed deletions
lineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978972
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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