A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981684



Internal ID18270195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152239751..152243017hg38UCSC Ensembl
Innerchr7:151936836..151940102hg19UCSC Ensembl
Innerchr7:151567769..151571035hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383267
hg193267
hg183267
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2719826, nssv2719825, nssv2719821, nssv2719828, nssv2719829, nssv2719824, nssv2719823, nssv2719827, nssv2719822, nssv2719820
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981684
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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