A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540577



Internal ID15507071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128805212..128881377hg38UCSC Ensembl
Innerchr7:128445266..128521431hg19UCSC Ensembl
Innerchr7:128232502..128308667hg18UCSC Ensembl
Innerchr7:128039217..128115382hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3876166
hg1976166
hg1876166
hg1776166
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464713
Supporting Variants
SamplesHGDP00602
Known GenesATP6V1F, CCDC136, FLNC, KCP, LOC100130705
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv540577
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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