A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063244



Internal ID19152463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15582813..15922838hg38UCSC Ensembl
Innerchr22:16055171..16395150hg19UCSC Ensembl
Innerchr22:14435171..14775150hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38340026
hg19339980
hg18339980
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3587583, nssv3733481, nssv3600438, nssv3587578, nssv3587576, nssv3600439, nssv3733478, nssv3587590, nssv3600437, nssv3587587, nssv3587582, nssv3600440, nssv3587588, nssv3587579, nssv3587585, nssv3733479, nssv3587574, nssv3587573, nssv3587580, nssv3587584, nssv3600436, nssv3733480, nssv3587589, nssv3587581, nssv3587575, nssv3600441, nssv3587586, nssv3587577
Samples
Known GenesBMS1P17, BMS1P18, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063244
Frequency
Sample Size11257
Observed Gain24
Observed Loss4
Observed Complex0
Frequencyn/a


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