A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6590041



Internal ID20963112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29736419..31610189hg38UCSC Ensembl
chr16:29747740..31621510hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381873771
hg191873771
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18242859
Samples
Known GenesAHSP, ALDOA, ARMC5, ASPHD1, BCKDK, BCL7C, BOLA2, BOLA2B, C16orf54, C16orf58, C16orf92, C16orf93, C16orf98, CD2BP2, CDIPT, CDIPT-AS1, CORO1A, COX6A2, CTF1, DCTPP1, DOC2A, FAM57B, FBRS, FBXL19, FBXL19-AS1, FUS, GDPD3, HIRIP3, HSD3B7, INO80E, ITGAD, ITGAL, ITGAM, ITGAX, KAT8, KCTD13, KIF22, LOC100862671, LOC388242, LOC440354, LOC595101, LOC606724, LOC613037, LOC613038, LOC730183, MAPK3, MAZ, MIR4518, MIR4519, MIR762, MVP, MYLPF, ORAI3, PAGR1, PHKG2, PPP4C, PRR14, PRRT2, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, SEPHS2, SEPT1, SETD1A, SEZ6L2, SLC5A2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SNORA30, SRCAP, STX1B, STX4, SULT1A3, SULT1A4, TAOK2, TBC1D10B, TBX6, TGFB1I1, TMEM219, TRIM72, VKORC1, YBX3P1, YPEL3, ZG16, ZNF48, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF764, ZNF768, ZNF771, ZNF785, ZNF843
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6590041
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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