A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606793



Internal ID16047516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227484hg38UCSC Ensembl
Innerchr7:44266699..44267083hg19UCSC Ensembl
Innerchr7:44233224..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38385
hg19385
hg18385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11307n54
Supporting Variantsnssv1083527, nssv1083516, nssv1083518, nssv1083522, nssv1083519, nssv1083526, nssv1083525, nssv1083524, nssv1083529, nssv1083517, nssv1083530, nssv1083513, nssv1083515, nssv1083512, nssv1083528, nssv1083514, nssv1083523, nssv1083521, nssv1083511, nssv1083520
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606793
Frequency
Sample Size17421
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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