A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970971



Internal ID18259507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152244217..152249801hg38UCSC Ensembl
Innerchr7:151941302..151946886hg19UCSC Ensembl
Innerchr7:151572235..151577819hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg385585
hg195585
hg185585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2487687, nssv2487688, nssv2487686, nssv2487693, nssv2487692, nssv2487689, nssv2487685, nssv2487691, nssv2487694, nssv2487690
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970971
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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