A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961647



Internal ID18596893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130685294..130687574hg38UCSC Ensembl
Innerchr2:131442867..131445147hg19UCSC Ensembl
Innerchr2:131159337..131161617hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg382281
hg192281
hg182281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2670247, nssv2670248, nssv2670242, nssv2670245, nssv2670244, nssv2670243, nssv2670241, nssv2670249, nssv2670240, nssv2670246
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP4F30P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961647
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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