A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001337



Internal ID19090554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130091652..130271878hg38UCSC Ensembl
Innerchr2:130849225..131029451hg19UCSC Ensembl
Innerchr2:130565695..130745921hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38180227
hg19180227
hg18180227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580830
Samples
Known GenesCCDC74B, MED15P9, MZT2B, POTEF, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001337
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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