A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049228



Internal ID18791759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30201146..30529543hg38UCSC Ensembl
Innerchr15:30493349..30821746hg19UCSC Ensembl
Innerchr15:28280641..28609038hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38328398
hg19328398
hg18328398
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2502n100
Supporting Variantsnssv3721531, nssv3721519, nssv3721520, nssv3546583, nssv3546584, nssv3721522, nssv3721530, nssv3546578, nssv3721524, nssv3546585, nssv3546598, nssv3546604, nssv3546607, nssv3546600, nssv3546581, nssv3721526, nssv3546589, nssv3546582, nssv3546591, nssv3546605, nssv3721525, nssv3721523, nssv3546596, nssv3546597, nssv3546603, nssv3546580, nssv3546586, nssv3721528, nssv3546601, nssv3546587, nssv3721529, nssv3546594, nssv3546599, nssv3546588, nssv3546602, nssv3546595, nssv3546593, nssv3546590, nssv3546592, nssv3546579, nssv3721527, nssv3721521, nssv3546606
Samples
Known GenesCHRFAM7A, DKFZP434L187, LOC101059918
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049228
Frequency
Sample Size29084
Observed Gain5
Observed Loss38
Observed Complex0
Frequencyn/a


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