A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517255



Internal ID15097862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152338225..152425837hg38UCSC Ensembl
Innerchr7:152035310..152122922hg19UCSC Ensembl
Innerchr7:151666243..151753855hg18UCSC Ensembl
Innerchr7:151472958..151560570hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3887613
hg1987613
hg1887613
hg1787613
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673658, nssv705184, nssv669613, nssv663550, nssv669571, nssv679630, nssv655125, nssv693647, nssv682686, nssv654127, nssv678607, nssv682213, nssv664571, nssv667435, nssv670972, nssv692905, nssv658355, nssv692789, nssv662417, nssv687644
Samples
Known GenesKMT2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517255
Frequency
Sample Size2026
Observed Gain16
Observed Loss4
Observed Complex0
Frequencyn/a


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