A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464244



Internal ID15177623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:873118..983092hg38UCSC Ensembl
Innerchr7:912755..1022728hg19UCSC Ensembl
Innerchr7:879281..989254hg18UCSC Ensembl
Innerchr7:685996..795969hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38109975
hg19109974
hg18109974
hg17109974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540189
SamplesNINDS_51
Known GenesADAP1, COX19, GET4, SUN1
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)nsv464244
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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