A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979189



Internal ID18267706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237520735..237523910hg38UCSC Ensembl
Innerchr2:238429378..238432553hg19UCSC Ensembl
Innerchr2:238094117..238097292hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383176
hg193176
hg183176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2225434, nssv2225435, nssv2225430, nssv2225431, nssv2225433, nssv2225437, nssv2225429, nssv2225438, nssv2225436, nssv2225432
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMLPH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979189
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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