A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2719823



Internal ID17495736
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 Flag1
Merged StatusS
Merged Variantsnsv981684
Supporting Variants
SamplesHGDP00998
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2719823
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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