A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541039



Internal ID15512071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146495785..146557568hg38UCSC Ensembl
Innerchr7:146192877..146254660hg19UCSC Ensembl
Innerchr7:145823810..145885593hg18UCSC Ensembl
Innerchr7:145630525..145692308hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3861784
hg1961784
hg1861784
hg1761784
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465186
Supporting Variants
SamplesNINDS_197
Known GenesCNTNAP2
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)nssv541039
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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