A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981611



Internal ID18616808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152212203..152239751hg38UCSC Ensembl
Innerchr7:151909288..151936836hg19UCSC Ensembl
Innerchr7:151540221..151567769hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3827549
hg1927549
hg1827549
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2487577, nssv2487585, nssv2487579, nssv2487584, nssv2487581, nssv2487580, nssv2487582, nssv2487583, nssv2487586, nssv2487578
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981611
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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